loading...| Preferred Name |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa |
| Synonyms |
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IIIA |
| ID |
http://purl.bioontology.org/ontology/OMIM/105600 |
| altLabel |
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IIIA CDAN3A CDAN3 ERYTHRORETICULOSIS, HEREDITARY BENIGN ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE III ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS CDA, TYPE III CDA, TYPE IIIA |
| cui |
C0271934 C5676874 C1862933 |
| Gene Locus |
15q23 |
| Gene Symbol |
MKLP1 CDAN3A KNSL5 KIF23 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU003427 http://purl.bioontology.org/ontology/OMIM/MTHU074606 http://purl.bioontology.org/ontology/OMIM/MTHU074604 http://purl.bioontology.org/ontology/OMIM/MTHU074608 http://purl.bioontology.org/ontology/OMIM/MTHU074612 http://purl.bioontology.org/ontology/OMIM/MTHU074602 http://purl.bioontology.org/ontology/OMIM/MTHU074610 http://purl.bioontology.org/ontology/OMIM/MTHU024108 http://purl.bioontology.org/ontology/OMIM/MTHU038076 http://purl.bioontology.org/ontology/OMIM/MTHU074603 http://purl.bioontology.org/ontology/OMIM/MTHU074609 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU074607 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
105600 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIa |
| Scope Statement |
Variable severity [MISCELLANEOUS] Caused by mutation in the kinesin family member 23 gene (KIF23, 605064.0001) [MOLECULAR BASIS] Some affected individuals may be asymptomatic [MISCELLANEOUS] Onset in childhood [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D000742 | Medical Subject Headings / 医学主题词表 | CUI | |
| http://purl.bioontology.org/ontology/MESH/C566285 | Medical Subject Headings / 医学主题词表 | CUI |